Page 113 - Read Online
P. 113

Watson et al. J Transl Genet Genom 2020;4:188-202  I  http://dx.doi.org/10.20517/jtgg.2020.31                               Page 199

               Financial support and sponsorship
               None.


               Conflicts of interest
               All authors declare that there are no conflicts of interest.


               Ethical approval and consent to participate
               Not applicable.


               Consent for publication
               Not applicable.

               Copyright
               © The Author(s) 2020.


               REFERENCES
               1.   Davis RL, Liang C, Sue CM. Mitochondrial diseases. Handb Clin Neurol 2018;147:125-41.
               2.   Chinnery PF. Mitochondrial disorders overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,
                   editors. GeneReviews((R)). Seattle (WA): University of Washington, Seattle; 1993.
               3.   McCormick EM, Zolkipli-Cunningham Z, Falk MJ. Mitochondrial disease genetics update: recent insights into the molecular diagnosis
                   and expanding phenotype of primary mitochondrial disease. Curr Opin Pediatr 2018;30:714-24.
               4.   Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, et al. Recent advances in understanding the molecular genetic basis of
                   mitochondrial disease. J Inherit Metab Dis 2020;43:36-50.
               5.   Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult
                   mitochondrial disease. Ann Neurol 2015;77:753-9.
               6.   Vandebona H, Mitchell P, Manwaring N, Griffiths K, Gopinath B, et al. Prevalence of mitochondrial 1555A-->G mutation in adults of
                   European descent. N Engl J Med 2009;360:642-4.
               7.   Manwaring N, Wang JJ, Mitchell P, Sue CM. Mitochondrial DNA disease prevalence: still underrecognized? Ann Neurol 2008;64:471;
                   author reply 471-2.
               8.   Manwaring N, Jones MM, Wang JJ, Rochtchina E, Howard C, et al. Population prevalence of the MELAS A3243G mutation.
                   Mitochondrion 2007;7:230-3.
               9.   Schapira AH. Mitochondrial diseases. Lancet 2012;379:1825-34.
               10.  Wallace DC. Mitochondrial diseases in man and mouse. Science 1999;283:1482-8.
               11.  Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, et al. Mitochondrial diseases. Nat Rev Dis Primers 2016;2:16080.
               12.  Munnich A, Rötig A, Chretien D, Cormier V, Bourgeron T, et al. Clinical presentation of mitochondrial disorders in childhood. J Inherit
                   Metab Dis 1996;19:521-7.
               13.  Liang C, Ahmad K, Sue CM. The broadening spectrum of mitochondrial disease: shifts in the diagnostic paradigm. Biochim Biophys
                   Acta 2014;1840:1360-7.
               14.  Grier J, Hirano M, Karaa A, Shepard E, Thompson JLP. Diagnostic odyssey of patients with mitochondrial disease: results of a survey.
                   Neurol Genet 2018;4:e230.
               15.  Theunissen TEJ, Nguyen M, Kamps R, Hendrickx AT, Sallevelt S, et al. Whole exome sequencing is the preferred strategy to identify the
                   genetic defect in patients with a probable or possible mitochondrial cause. Front Genet 2018;9:400.
               16.  Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, et al. Diagnosis and molecular basis of mitochondrial respiratory chain
                   disorders: exome sequencing for disease gene identification. Biochimi Biophys Acta 2014;1840:1355-9.
               17.  Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, et al. New perspective in diagnostics of mitochondrial disorders:
                   two years’ experience with whole-exome sequencing at a national paediatric centre. J Transl Med 2016;14:174.
               18.  Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, et al. Use of whole-exome sequencing to determine the genetic basis of multiple
                   mitochondrial respiratory chain complex deficiencies. JAMA 2014;312:68-77.
               19.  Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ. Whole exome sequencing of suspected mitochondrial
                   patients in clinical practice. J Inherit Metab Dis 2015;38:437-43.
               20.  Puusepp S, Reinson K, Pajusalu S, Murumets Ü, Õiglane-Shlik E, et al. Effectiveness of whole exome sequencing in unsolved patients
                   with a clinical suspicion of a mitochondrial disorder in Estonia. Mol Genet Metab Rep 2018;15:80-9.
               21.  Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, et al. A comprehensive genomic analysis reveals the genetic landscape of
                   mitochondrial respiratory chain complex deficiencies. PLoS Genet 2016;12:e1005679.
               22.  Schoonen M, Smuts I, Louw R, Elson JL, van Dyk E, et al. Panel-based nuclear and mitochondrial next-generation sequencing outcomes
                   of an ethnically diverse pediatric patient cohort with mitochondrial disease. J Mol Diagn 2019;21:503-13.
   108   109   110   111   112   113   114   115   116   117   118